Allele Registry

Canonical Allele Identifier: PA279518

Gene: TMEM67 HGNC NCBI

ClinVar Allele:

214275

ClinVar RCV:

RCV000201733

ClinVar Variation:

217716

HGVS (amino-acid)	Matching Registered Transcripts
NP_714915.3:p.Thr244Ala	CA279514 NM_153704.6:c.730A>G